骨科

订阅

MedSci主页 / 所有栏目 / 骨科

NEJM：石骨症-案例报道

2017-04-20 xing.T MedSci原创

石骨症骨密度增加
关注

石骨症一种罕见的遗传性疾病，特点是骨密度增加。通常情况下，一些基因突变可导致破骨细胞功能受损和骨吸收障碍。并发症可包括颅神经受压、骨骼干脆和骨髓衰竭。

患者为一名6岁的女孩，被其父母带到牙科诊所就诊，因其只有一颗牙齿。她的病史显示该患者的父母为近亲结婚。她部分听力受损，2岁时失去视力。此外，她有斜视，前额突出，眼距过宽、身材矮小。

实验室检查值得注意的是，血清钙水平为5.7毫克每分升（1.42毫摩尔每升；正常范围为8.7-10.3毫克每分升[2.18-2.58毫摩尔每升]），而血磷和碱性磷酸酶水平正常。计算机断层扫描显示颅骨弥漫性增厚（如图A箭头所示）。手腕的X光片显示骨硬化性改变和透明带（如图B箭头所示）。这些发现与诊断石骨症的标准一致。



石骨症一种罕见的遗传性疾病，特点是骨密度增加。通常情况下，一些基因突变可导致破骨细胞功能受损和骨吸收障碍。并发症可包括颅神经受压、骨骼干脆和骨髓衰竭。

该患者开始骨化三醇治疗，并被转诊进行干扰素γ-1b治疗；可惜的是，该患者最后失访了。

原始出处：

Udayshankar Yaga,et al. Osteopetrosis.N Engl J Med 2017;http://www.nejm.org/doi/full/10.1056/NEJMicm1609871

本文系梅斯医学（MedSci）原创编译整理，转载需授权！

版权声明：
本网站所有内容来源注明为“梅斯医学”或“MedSci原创”的文字、图片和音视频资料，版权均属于梅斯医学所有。非经授权，任何媒体、网站或个人不得转载，授权转载时须注明来源为“梅斯医学”。其它来源的文章系转载文章，或“梅斯号”自媒体发布的文章，仅系出于传递更多信息之目的，本站仅负责审核内容合规，其内容不代表本站立场，本站不负责内容的准确性和版权。如果存在侵权、或不希望被转载的媒体或个人可与我们联系，我们将立即进行删除处理。
在此留言
评论区 (5)
#插入话题
  1. [GetPortalCommentsPageByObjectIdResponse(id=1651358, encodeId=22871651358f0, content=<a href='/topic/show?id=297de329229' target=_blank style='color:#2F92EE;'>#石骨症#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=38, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=73292, encryptionId=297de329229, topicName=石骨症)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=4c37265, createdName=zhaojie88, createdTime=Sat Jul 01 14:48:00 CST 2017, time=2017-07-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=189469, encodeId=948818946991, content=怎么处理好呢, beContent=null, objectType=article, channel=null, level=null, likeNumber=0, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=375c2051977, createdName=1871ec002am, createdTime=Fri Apr 21 22:40:05 CST 2017, time=2017-04-21, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=189055, encodeId=88cb18905541, content=学习了，涨知识了。, beContent=null, objectType=article, channel=null, level=null, likeNumber=49, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160914/IMG57D82E721DB581755.jpg, createdBy=4fc81933929, createdName=明天会更好！, createdTime=Thu Apr 20 10:59:05 CST 2017, time=2017-04-20, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=189049, encodeId=becc1890490e, content=使用, beContent=null, objectType=article, channel=null, level=null, likeNumber=41, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mONcle9pic3xjZ9qh3bhXrJtUlmycKGfQKPuADVZQsdNAQj5IrHHlzbGsDwScictBgogYRk8KhicpgEKwTEfOHgqw/0, createdBy=bc931611963, createdName=jin321, createdTime=Thu Apr 20 10:57:39 CST 2017, time=2017-04-20, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=189026, encodeId=b88d18902626, content=遗传性疾病很难改善, beContent=null, objectType=article, channel=null, level=null, likeNumber=47, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/oLAjfB7s1ib06iaV3D9Tg5Kym1A9qicflExZYSdibSZBHDyicKZZj37w4jR44fPa9DI3mVLObHAxzntpTAbwxeHvviclcw8coNrDge/0, createdBy=6dc22001775, createdName=春暖花开8785, createdTime=Thu Apr 20 09:41:56 CST 2017, time=2017-04-20, status=1, ipAttribution=)]
    2017-07-01 zhaojie88

    #石骨症#

    0

  2. [GetPortalCommentsPageByObjectIdResponse(id=1651358, encodeId=22871651358f0, content=<a href='/topic/show?id=297de329229' target=_blank style='color:#2F92EE;'>#石骨症#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=38, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=73292, encryptionId=297de329229, topicName=石骨症)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=4c37265, createdName=zhaojie88, createdTime=Sat Jul 01 14:48:00 CST 2017, time=2017-07-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=189469, encodeId=948818946991, content=怎么处理好呢, beContent=null, objectType=article, channel=null, level=null, likeNumber=0, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=375c2051977, createdName=1871ec002am, createdTime=Fri Apr 21 22:40:05 CST 2017, time=2017-04-21, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=189055, encodeId=88cb18905541, content=学习了，涨知识了。, beContent=null, objectType=article, channel=null, level=null, likeNumber=49, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160914/IMG57D82E721DB581755.jpg, createdBy=4fc81933929, createdName=明天会更好！, createdTime=Thu Apr 20 10:59:05 CST 2017, time=2017-04-20, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=189049, encodeId=becc1890490e, content=使用, beContent=null, objectType=article, channel=null, level=null, likeNumber=41, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mONcle9pic3xjZ9qh3bhXrJtUlmycKGfQKPuADVZQsdNAQj5IrHHlzbGsDwScictBgogYRk8KhicpgEKwTEfOHgqw/0, createdBy=bc931611963, createdName=jin321, createdTime=Thu Apr 20 10:57:39 CST 2017, time=2017-04-20, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=189026, encodeId=b88d18902626, content=遗传性疾病很难改善, beContent=null, objectType=article, channel=null, level=null, likeNumber=47, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/oLAjfB7s1ib06iaV3D9Tg5Kym1A9qicflExZYSdibSZBHDyicKZZj37w4jR44fPa9DI3mVLObHAxzntpTAbwxeHvviclcw8coNrDge/0, createdBy=6dc22001775, createdName=春暖花开8785, createdTime=Thu Apr 20 09:41:56 CST 2017, time=2017-04-20, status=1, ipAttribution=)]
    2017-04-21 1871ec002am

    怎么处理好呢

    0

  3. [GetPortalCommentsPageByObjectIdResponse(id=1651358, encodeId=22871651358f0, content=<a href='/topic/show?id=297de329229' target=_blank style='color:#2F92EE;'>#石骨症#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=38, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=73292, encryptionId=297de329229, topicName=石骨症)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=4c37265, createdName=zhaojie88, createdTime=Sat Jul 01 14:48:00 CST 2017, time=2017-07-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=189469, encodeId=948818946991, content=怎么处理好呢, beContent=null, objectType=article, channel=null, level=null, likeNumber=0, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=375c2051977, createdName=1871ec002am, createdTime=Fri Apr 21 22:40:05 CST 2017, time=2017-04-21, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=189055, encodeId=88cb18905541, content=学习了，涨知识了。, beContent=null, objectType=article, channel=null, level=null, likeNumber=49, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160914/IMG57D82E721DB581755.jpg, createdBy=4fc81933929, createdName=明天会更好！, createdTime=Thu Apr 20 10:59:05 CST 2017, time=2017-04-20, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=189049, encodeId=becc1890490e, content=使用, beContent=null, objectType=article, channel=null, level=null, likeNumber=41, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mONcle9pic3xjZ9qh3bhXrJtUlmycKGfQKPuADVZQsdNAQj5IrHHlzbGsDwScictBgogYRk8KhicpgEKwTEfOHgqw/0, createdBy=bc931611963, createdName=jin321, createdTime=Thu Apr 20 10:57:39 CST 2017, time=2017-04-20, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=189026, encodeId=b88d18902626, content=遗传性疾病很难改善, beContent=null, objectType=article, channel=null, level=null, likeNumber=47, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/oLAjfB7s1ib06iaV3D9Tg5Kym1A9qicflExZYSdibSZBHDyicKZZj37w4jR44fPa9DI3mVLObHAxzntpTAbwxeHvviclcw8coNrDge/0, createdBy=6dc22001775, createdName=春暖花开8785, createdTime=Thu Apr 20 09:41:56 CST 2017, time=2017-04-20, status=1, ipAttribution=)]
    2017-04-20 明天会更好！

    学习了，涨知识了。

    0

  4. [GetPortalCommentsPageByObjectIdResponse(id=1651358, encodeId=22871651358f0, content=<a href='/topic/show?id=297de329229' target=_blank style='color:#2F92EE;'>#石骨症#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=38, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=73292, encryptionId=297de329229, topicName=石骨症)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=4c37265, createdName=zhaojie88, createdTime=Sat Jul 01 14:48:00 CST 2017, time=2017-07-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=189469, encodeId=948818946991, content=怎么处理好呢, beContent=null, objectType=article, channel=null, level=null, likeNumber=0, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=375c2051977, createdName=1871ec002am, createdTime=Fri Apr 21 22:40:05 CST 2017, time=2017-04-21, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=189055, encodeId=88cb18905541, content=学习了，涨知识了。, beContent=null, objectType=article, channel=null, level=null, likeNumber=49, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160914/IMG57D82E721DB581755.jpg, createdBy=4fc81933929, createdName=明天会更好！, createdTime=Thu Apr 20 10:59:05 CST 2017, time=2017-04-20, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=189049, encodeId=becc1890490e, content=使用, beContent=null, objectType=article, channel=null, level=null, likeNumber=41, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mONcle9pic3xjZ9qh3bhXrJtUlmycKGfQKPuADVZQsdNAQj5IrHHlzbGsDwScictBgogYRk8KhicpgEKwTEfOHgqw/0, createdBy=bc931611963, createdName=jin321, createdTime=Thu Apr 20 10:57:39 CST 2017, time=2017-04-20, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=189026, encodeId=b88d18902626, content=遗传性疾病很难改善, beContent=null, objectType=article, channel=null, level=null, likeNumber=47, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/oLAjfB7s1ib06iaV3D9Tg5Kym1A9qicflExZYSdibSZBHDyicKZZj37w4jR44fPa9DI3mVLObHAxzntpTAbwxeHvviclcw8coNrDge/0, createdBy=6dc22001775, createdName=春暖花开8785, createdTime=Thu Apr 20 09:41:56 CST 2017, time=2017-04-20, status=1, ipAttribution=)]
    2017-04-20 jin321

    使用

    0

  5. [GetPortalCommentsPageByObjectIdResponse(id=1651358, encodeId=22871651358f0, content=<a href='/topic/show?id=297de329229' target=_blank style='color:#2F92EE;'>#石骨症#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=38, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=73292, encryptionId=297de329229, topicName=石骨症)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=4c37265, createdName=zhaojie88, createdTime=Sat Jul 01 14:48:00 CST 2017, time=2017-07-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=189469, encodeId=948818946991, content=怎么处理好呢, beContent=null, objectType=article, channel=null, level=null, likeNumber=0, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=375c2051977, createdName=1871ec002am, createdTime=Fri Apr 21 22:40:05 CST 2017, time=2017-04-21, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=189055, encodeId=88cb18905541, content=学习了，涨知识了。, beContent=null, objectType=article, channel=null, level=null, likeNumber=49, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160914/IMG57D82E721DB581755.jpg, createdBy=4fc81933929, createdName=明天会更好！, createdTime=Thu Apr 20 10:59:05 CST 2017, time=2017-04-20, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=189049, encodeId=becc1890490e, content=使用, beContent=null, objectType=article, channel=null, level=null, likeNumber=41, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mONcle9pic3xjZ9qh3bhXrJtUlmycKGfQKPuADVZQsdNAQj5IrHHlzbGsDwScictBgogYRk8KhicpgEKwTEfOHgqw/0, createdBy=bc931611963, createdName=jin321, createdTime=Thu Apr 20 10:57:39 CST 2017, time=2017-04-20, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=189026, encodeId=b88d18902626, content=遗传性疾病很难改善, beContent=null, objectType=article, channel=null, level=null, likeNumber=47, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/oLAjfB7s1ib06iaV3D9Tg5Kym1A9qicflExZYSdibSZBHDyicKZZj37w4jR44fPa9DI3mVLObHAxzntpTAbwxeHvviclcw8coNrDge/0, createdBy=6dc22001775, createdName=春暖花开8785, createdTime=Thu Apr 20 09:41:56 CST 2017, time=2017-04-20, status=1, ipAttribution=)]
    2017-04-20 春暖花开8785

    遗传性疾病很难改善

    0